Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.900 10 2005 2018
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.820 1.000 3 2010 2012
dbSNP: rs3213758
rs3213758
RPGRIP1L
3 0.925 0.040 16 53605526 missense variant C/T snv 7.3E-02 4.7E-02 0.820 1.000 2 2013 2015
dbSNP: rs638893
rs638893 		4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.820 1.000 2 2013 2017
dbSNP: rs706779
rs706779
IL2RA
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.810 1.000 5 2010 2016
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.810 1.000 4 2010 2015
dbSNP: rs8192917
rs8192917
GZMB ; LOC107984667
3 0.925 0.040 14 24632954 missense variant C/T snv 0.76 0.72 0.810 1.000 4 2010 2018
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.810 0.500 2 2010 2013
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.810 0.500 2 2010 2011
dbSNP: rs2456973
rs2456973
IKZF4 ; LOC105369780 ; LOC105369781
4 0.925 0.040 12 56023144 intron variant A/C;G snv 0.810 1.000 2 2012 2015
dbSNP: rs59374417
rs59374417 		2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs10876864
rs10876864
IKZF4
5 0.882 0.120 12 56007301 upstream gene variant G/A snv 0.50 0.810 1.000 1 2013 2013
dbSNP: rs1417210
rs1417210
SLC29A3
2 0.925 0.040 10 71376162 intron variant G/A;C snv 0.810 1.000 1 2013 2013
dbSNP: rs7758128
rs7758128
TSBP1-AS1
3 0.882 0.040 6 32377506 intron variant C/A;T snv 4.2E-02 0.810 1.000 1 2011 2011
dbSNP: rs229527
rs229527
C1QTNF6
2 0.925 0.160 22 37185445 missense variant C/A;G snv 0.43 0.800 1.000 4 2010 2016
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.800 1.000 3 2010 2012
dbSNP: rs11021232
rs11021232 		1 1.000 0.040 11 95587644 intron variant T/C snv 0.14 0.800 1.000 2 2012 2016
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 2 2010 2012
dbSNP: rs13076312
rs13076312
LPP
2 1.000 0.040 3 188371466 intron variant C/T snv 0.44 0.800 1.000 2 2010 2016
dbSNP: rs2111485
rs2111485 		17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.800 1.000 2 2012 2016
dbSNP: rs3806156
rs3806156
BTNL2 ; TSBP1-AS1
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.800 1.000 2 2010 2012
dbSNP: rs4908760
rs4908760
RERE
1 1.000 0.040 1 8466082 intron variant G/A snv 0.68 0.800 1.000 2 2010 2012
dbSNP: rs10768122
rs10768122
SLC1A2
1 1.000 0.040 11 35259305 3 prime UTR variant A/G snv 0.33 0.800 1.000 1 2012 2012
dbSNP: rs1129038
rs1129038
HERC2
8 0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 0.800 1.000 1 2012 2012
dbSNP: rs11593576
rs11593576
ZMIZ1
2 0.925 0.040 10 79256139 intron variant C/T snv 0.29 0.800 1.000 1 2010 2010